Publications: DR Rathi Prasad

Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R et al. ( 2025 ) . Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents . Nature Reviews Endocrinology vol. 21 , ( 10 ) 656 - 656 .

Castro S, Yin KN, d’Aniello F, Alexander EC, Connolly E, Hughes C, Martin L, Prasad R et al. ( 2025 ) . Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study . Human Reproduction Open vol. 2025 , ( 2 )

Smith C, Prasad R, Hughes C, Maharaj A, Qamar Y, Maitra S, Hutchison C, Ramirez LM et al. ( 2025 ) . The genetics of adrenal insufficiency, evolution of methodologies over 35 years in a single centre . Endocrine Abstracts

Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R et al. ( 2024 ) . Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents . Nature Reviews Endocrinology vol. 20 , ( 12 ) 760 - 760 .

Casey RT, Hendriks E, Deal C, Waguespack SG, Wiegering V, Redlich A, Akker S, Prasad R et al. ( 2024 ) . International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents . Nature Reviews Endocrinology vol. 20 , ( 12 ) 729 - 748 .

Patjamontri S, Lucas-Herald AK, McMillan M, Prasad R, Metherell LA ( 2024 ) . Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency . Hormone Research in Paediatrics . vol. 97 , 509 - 514 .

Aslam AA, Martin L, Prasad R, Paraskevopoulou N, Water AM, Chan LF ( 2023 ) . Thyroid hormones and the kidneys: Don't forget to check renal function in thyroid disease . Endocrine Abstracts

Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2023 ) . Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation . Journal of Lipid Research vol. 64 , ( 4 )

Williams JL, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2023 ) . Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma . European Journal of Endocrinology vol. 188 , ( 1 )

Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2022 ) . 181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . Journal of Investigative Dermatology vol. 142 , ( 12 )

Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C et al. ( 2022 ) . RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency . Journal of the Endocrine Society vol. 6 , ( Supplement_2 ) a140 - a141 .

Ming WKR, Williams J, Metherell L, Prasad R ( 2022 ) . SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency . Endocrine Abstracts

Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R et al. ( 2022 ) . The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing . Endocrine Abstracts

Dunkel L, Prasad R, Martin L, Senniappan S, Butler G, Howard S ( 2022 ) . UK protocol for induction of puberty with gonadotropins in males with hypogonadotropic hypogonadism . Endocrine Abstracts

Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R, Metherell L ( 2022 ) . ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions .

Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M et al. ( 2022 ) . A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review . Endocrine Connections vol. 11 , ( 8 )

Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A et al. ( 2022 ) . A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES . Endocrine Abstracts

Williams J, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J et al. ( 2022 ) . Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma . Endocrine Abstracts

Maharaj A, Güran T, Buonocore F, Achermann JC, Metherell L ( 2022 ) . Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency . Journal of the Endocrine Society vol. 6 , ( 5 )

Smith CJ, Williams JL, Hall C, Caley MP, O'Toole EA, Prasad R, Metherell LA ( 2022 ) . Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 142 , S211 - S211 .

Williams J, Smith C, Maharaj A, Kwong R, Hall C, Metherell L, Prasad R ( 2021 ) . SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland . Endocrine Abstracts

Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R, Metherell LA ( 2021 ) . 099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation . Journal of Investigative Dermatology vol. 141 , ( 10 )

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al. ( 2021 ) . Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK . Journal of the Endocrine Society vol. 5 , ( 8 )

Kwong RMW, Maharaj AV, Prasad R ( 2021 ) . Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a662 - a662 .

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al. ( 2021 ) . Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 187 - 188 .

Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Metherell LA ( 2020 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . The Journal of Steroid Biochemistry and Molecular Biology vol. 202 ,

Maharaj A, Theodorou D, Metherell LA ( 2020 ) . A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy . Frontiers in Pediatrics vol. 8 ,

Maharaj A, Williams J, Guran T, Braslavsky D ( 2019 ) . SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway . Endocrine Abstracts

Prasad R, Nicholas AK, Schoenmakers N, Barton J ( 2019 ) . Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction . Hormone Research in Paediatrics vol. 92 , ( 5 ) 340 - 344 .

Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L, Metherell L ( 2019 ) . Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability . Endocrine Abstracts

Maharaj A, Meimaridou E, Williams J, Guran T, Metherell L ( 2019 ) . SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway . HORMONE RESEARCH IN PAEDIATRICS . Conference: The 58th Annual ESPE Meeting vol. 91 , 61 - 61 .

Primrose JN, Fox RP, Palmer DH, Malik HZ, Prasad R, Mirza D, Anthony A, Corrie P et al. ( 2019 ) . Capecitabine compared with observation in resected biliary tract cancer (BILCAP): a randomised, controlled, multicentre, phase 3 study . The Lancet Oncology vol. 20 , ( 5 ) 663 - 673 .

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L ( 2019 ) . Isolated glucocorticoid deficiency: Genetic causes and animal models . The Journal of Steroid Biochemistry and Molecular Biology vol. 189 , 73 - 80 .

Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA ( 2019 ) . Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 108 - 109 .

Dhar R, Singh S, Talwar D, Chandrashekariah S, Kant S, Swarnakar R, Rajagopala S, D'Souza G et al. ( 2018 ) . Phenotypes in Bronchiectasis from the EMBARC India Registry . Conference: Respiratory infections

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper CP, Burgos-Tirado N et al. ( 2018 ) . Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing . Journal of the Endocrine Society vol. 3 , ( 1 ) 201 - 221 .

Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W et al. ( 2018 ) . Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome? . Endocrine Abstracts

Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D ( 2018 ) . Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction . Endocrine Abstracts

( 2018 ) . 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) . Hormone Research in Paediatrics . vol. 90 , 1 - 680 .

( 2018 ) . 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) . Hormone Research in Paediatrics . vol. 90 Suppl 1 , 1 - 680 .

Maharaj A, Wallace D, Banerjee I, Metherell L ( 2018 ) . SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 477 - 478 .

Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B ( 2018 ) . Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) ( Athens, Greece ) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 78 - 78 .

Crowne E, Prasad R, Newey P, Bradley K, Charnley R, Doran H, Callaway M, Mayhew J et al. ( 2018 ) . National UK Guidelines for Screening, Multi-Disciplinary Team Management and Long-Term Follow-Up of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1) . HORMONE RESEARCH IN PAEDIATRICS . vol. 90 , 56 - 57 .

Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP, Storr HL ( 2017 ) . Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology . Endocrine Abstracts

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper C, Prasad R et al. ( 2017 ) . Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing . Endocrine Abstracts

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A et al. ( 2017 ) . Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome . Journal of Clinical Investigation vol. 127 , ( 3 ) 942 - 953 .

Prasad R, Maharaj A, Meimaridou E, van VP, Buonocore F, Barbagelata E, Bergada I, Cassinelli H et al. ( 2016 ) . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Endocrine Abstracts

Prasad R, Maharaj A, Meimaridou E, VanVeldhoven P, Buonocore F, Bergada I, Barbagelata E, Cassinelli H et al. . Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome . Endocrine Abstracts .

Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM ( 2014 ) . Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency . Journal of Endocrinological Investigation vol. 38 , ( 4 ) 407 - 412 .

Meimaridou E, Prasad R, Kowalczyk J, Clark A, Storr H, Metherell L ( 2014 ) . Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex . Endocrine Abstracts

Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA ( 2014 ) . Oxidative stress and adrenocortical insufficiency . Journal of Endocrinology vol. 221 , ( 3 ) r63 - r73 .

Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al. ( 2014 ) . Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) . The Journal of Clinical Endocrinology & Metabolism vol. 99 , ( 8 ) e1556 - e1563 .

Prasad R, Metherell LA, Clark AJ, Storr HL ( 2013 ) . Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis . Endocrinology vol. 154 , ( 9 ) 3209 - 3218 .

Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL, Metherell LA ( 2013 ) . PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands . Free Radical Biology and Medicine vol. 65 ,

Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H, Metherell L ( 2013 ) . A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans . Endocrine Abstracts1 - 1 .

Prasad⁎ R, Clark AJ, Storr HL ( 2012 ) . Deficiency of ALADIN, the AAAS gene product, renders human adrenal and neuronal cells susceptible to oxidative stress . Free Radical Biology and Medicine vol. 53 ,

Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL ( 2011 ) . Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance . J Endocrinol Invest vol. 34 , ( 4 ) 296 - 299 .